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Down syndrome and microRNAs

dc.contributor.authorBrás, Aldina
dc.contributor.authorRodrigues, António S
dc.contributor.authorGomes, Bruno
dc.contributor.authorRueff, José
dc.contributor.authorRueff, Jose
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.institutionCentre for Toxicogenomics and Human Health (ToxOmics)
dc.contributor.pblSpandidos Publications
dc.date.accessioned2018-02-14T23:14:43Z
dc.date.available2022-02-21T01:31:17Z
dc.date.embargoedUntil2018-07-01
dc.date.issued2018-01
dc.description.abstractIn recent years numerous studies have indicated the importance of microRNAs (miRNA/miRs) in human pathology. Down syndrome (DS) is the most prevalent survivable chromosomal disorder and is attributed to trisomy 21 and the subsequent alteration of the dosage of genes located on this chromosome. A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR- 125b-2, let-7c and miR-99a. This overexpression may contribute to the neuropathology, congenital heart defects, leukemia and low rate of solid tumor development observed in patients with DS. MiRNAs located on other chromosomes and with associated target genes on or off chromosome 21 may also be involved in the DS phenotype. In the present review, an overview of miRNAs and the haploinsufficiency and protein translation of specific miRNA targets in DS are discussed. This aimed to aid understanding of the pathogenesis of DS, and may contribute to the development of novel strategies for the prevention and treatment of the pathologies of DS.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent6
dc.format.extent436348
dc.identifier.doi10.3892/br.2017.1019
dc.identifier.issn2049-9434
dc.identifier.otherPURE: 3611057
dc.identifier.otherPURE UUID: c418b376-f4b9-4b46-90d0-51965a38b1f4
dc.identifier.otherPubMed: 29403643
dc.identifier.otherPubMedCentral: PMC5780767
dc.identifier.otherWOS: 000428947000002
dc.identifier.otherScopus: 85048508776
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780767/
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780767/
dc.language.isoeng
dc.peerreviewedyes
dc.subjectDown syndrome
dc.subjectmicroRNAs
dc.subjecttrisomy 21
dc.titleDown syndrome and microRNAsen
dc.typereview
degois.publication.firstPage11
degois.publication.issue1
degois.publication.lastPage16
degois.publication.titleBiomedical Reports
degois.publication.volume8
dspace.entity.typePublication
person.familyNameRueff
person.givenNameJose
person.identifier793666
person.identifier.ciencia-id0E15-908D-EA21
person.identifier.orcid0000-0002-8456-7295
person.identifier.ridE-6426-2013
person.identifier.scopus-author-id7006536439
rcaap.rightsopenAccess
relation.isAuthorOfPublication91a3b5ac-0328-498d-8cb8-08555b202306
relation.isAuthorOfPublication.latestForDiscovery91a3b5ac-0328-498d-8cb8-08555b202306

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